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COL4A1 and Intraventricular Hemorrhage

Leite de Almeida, Laura; Grangeia, Ana; Sampaio, Luísa; Vilan, Ana

N/a.; N/a.

Date: 2024   |   Origin: Acta Médica Portuguesa
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Relevance of Multigene Panels in the Molecular diagnosis of patients with disor...

Pereira-Caetano, Iris; Mendonça, Joana; Mirante, Alice; Cardoso, Rita; Rodrigues, Márcia; Oliveira, João Paulo; Grangeia, Ana; Barbosa, David

Introduction: Next generation sequencing (NGS) is increasingly used in the molecular diagnosis of rare diseases, such as disorders of sexual development (DSD), allowing the analysis of a greater number of genes in a single assay, providing faster results with reduced costs. DSD patients may present high phenotypic overlap (genital ambiguity, sex reversal, delayed/absent puberty, infertility) posing challenges t...

Date: 2023   |   Origin: Repositório Científico do Instituto Nacional de Saúde
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